Linked Data
ClinVar Variation Id:
448917
ClinVar RCV Id:
RCV000521774
dbSNP Id:
rs796052241
PubMed:
PMID:26238514
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45852564del , CM000674.2:g.45852564del | GRCh38 |
| NC_000012.11:g.46246347del , CM000674.1:g.46246347del | GRCh37 |
| NC_000012.10:g.44532614del | NCBI36 |
| NG_052800.1:g.127900del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422737.7:c.4441del | ENSP00000415650.3:p.His1481IlefsTer4 | |
| ENST00000457135.2:c.650del | ||
| ENST00000334344.11:c.4441del MANE Select | ENSP00000335044.6:p.His1481IlefsTer4 | |
| ENST00000422737.6:c.4362del | ||
| ENST00000334344.10:c.4441del | ENSP00000335044.6:p.His1481IlefsTer4 | |
| ENST00000422737.5:c.3994del | ENSP00000415650.1:p.His1332IlefsTer4 | |
| ENST00000444670.5:c.3271del | ENSP00000397307.1:p.His1091IlefsTer4 | |
| ENST00000457135.1:c.265del | ENSP00000388357.1:p.His89IlefsTer4 | |
| ENST00000479608.5:n.3732del | ||
| NM_152641.2:c.4441del | NP_689854.2:p.His1481IlefsTer4 | |
| XM_006719272.2:c.4441del | XP_006719335.1:p.His1481IlefsTer4 | |
| XM_011538025.1:c.2809del | XP_011536327.1:p.His937IlefsTer4 | |
| XR_944505.1:n.4589del | ||
| NM_001347839.1:c.4441del | NP_001334768.1:p.His1481IlefsTer4 | |
| NM_152641.3:c.4441del | NP_689854.2:p.His1481IlefsTer4 | |
| XM_006719272.4:c.4441del | XP_006719335.1:p.His1481IlefsTer4 | |
| XR_944505.3:n.4572del | ||
| NM_152641.4:c.4441del MANE Select | NP_689854.2:p.His1481IlefsTer4 | |
| NM_001347839.2:c.4441del | NP_001334768.1:p.His1481IlefsTer4 |